Cerebrotendinous xanthomatosis (CTX) is a rare and treatable autosomal recessive disease. The diagnosis should be suspected in the presence of a suggestive clinical triad characterized by early-onset ... [more ▼]

Cerebrotendinous xanthomatosis (CTX) is a rare and treatable autosomal recessive disease. The diagnosis should be suspected in the presence of a suggestive clinical triad characterized by early-onset cataract, tendinous xanthomata and neurological symptoms and signs, notably cerebellar ataxia, mental retardation and pyramidal syndrome.The diagnosis is confirmed by demonstrating an increased blood level of cholestanol, or/and by molecular genetic analysis.In typical cases, brain MRI shows bilateral hyperintensity of the cerebellar nucleus dentatus together with cerebral atrophy and leukoencephalopathy. The treatment is based on the administration of chenodeoxycholic acid. The aim is to restore the negative feedback on the enzymatic cascade altered by mutation in the gene CYP27 which induces a 27-hydroxylase deficiency [less ▲]

The goal of our study was to investigate different aspects of sleep, namely the sleep-wake cycle and sleep stages, in the vegetative state/unresponsive wakefulness syndrome (VS/UWS) and minimally ... [more ▼]

The goal of our study was to investigate different aspects of sleep, namely the sleep-wake cycle and sleep stages, in the vegetative state/unresponsive wakefulness syndrome (VS/UWS) and minimally conscious state (MCS). 24h polysomnography was performed in 20 patients in a UWS (n=10) or in a MCS (n=10) due to brain injury. The data were first tested for the presence of a sleep-wake cycle and the observed sleep patterns were compared to standard scoring criteria. Sleep spindles, slow waves sleep and rapid eye movement sleep were quantified and their clinical value was investigated. According to our results, an electrophysiological sleep-wake cycle was identified in 5 MCS and 3 VS/UWS patients. Sleep stages did not always match the standard scoring criteria which therefore needed to be adapted. Sleep spindles were more present in patients who clinically improved within 6 months. Slow wave sleep was present in 8 MCS and 3 VS/UWS patients but never in the ischemic etiology. Rapid eye movement sleep, and therefore dreaming which is a form of consciousness, was present in all MCS and 3 VS/UWS patients. In conclusion, the presence of alternating periods of eyes-open/eyes-closed cycles does not necessarily imply preserved electrophysiological sleep architecture in the UWS and MCS, contrary to previous definition. The investigation of sleep is a little studied yet simple and informative way to evaluate the integrity of residual brain function in patients with disorders of consciousness with possible clinical diagnostic and prognostic implications. [less ▲]

Objective: OBJECTIVE: To describe the clinical, laboratory and electrophysiological features of a patient who presented an Avellis syndrome as the initial feature of Miller Fisher syndrome (MFS ... [more ▼]

Objective: OBJECTIVE: To describe the clinical, laboratory and electrophysiological features of a patient who presented an Avellis syndrome as the initial feature of Miller Fisher syndrome (MFS). Background: BACKGROUND: Anti-GQ1b Ig antibodies are associated with an increasing spectrum of neurological disorders, including MFS and Guillain-Barre syndrome (GBS). Design/Methods: DESIGN/METHODS: Clinical case description. Results: RESULTS: A 67-year old woman was seen for subacute dysphagia and dysphonia, preceded by rapidly worsening paresthesia of the extremities and face, with a history of upper respiratory tract infection two weeks before admission. Nasotracheal examination showed a left velopalatine and left vocal cord paresis. Twelve hours later, sensory ataxia appeared and deep tendon reflexes weakened. Diffuse paresis affecting predominantly the axial muscles developped. Oculomotricity was preserved. Brain MRI was normal, while EMG suggested a mild sensory neuropathy. Within hours, dysphagia worsened and dyspnea appeared, prompting ICU admission for airway support. She developed a proximal paresis and dysautonomia, global areflexia. CSF findings were unremarkable. IVIg were administered at a dose of 0.2g/kg per day during five days. Control EMG showed signs of polyradiculoneuropathy. She gradually recovered and was discharged at home after 32 days, with only a slight velopalatal paresis and a mild fatigue. Anti-ganglioside antibodies screen was positive for IgG-GM3, GD1b, GD3, GQ1b, GT1a and GT1b. In front of this clinical and biological picture, the diagnosis of atypical MFS was retained. Thirty day after discharge, both clinical and electrophysiological parameters were normalised. Conclusions: CONCLUSIONS: This case highlights that (i) MFS can show atypical presentation (here a pure Avellis syndrome, never reported in the context of the anti-GQ1b syndrome to our knowledge) and should be considered in front of an isolated impaired cranial nerve function, even in the absence of the classical triad of ophtalmoplegia, areflexia and ataxia, and (ii) that the boundaries between MFS and GBS are usually neater in textbooks than in real life. [less ▲]

Pain, suffering and positive emotions in patients in vegetative state/unresponsive wakefulness syndrome (VS/UWS) and minimally conscious states (MCS) pose clinical and ethical challenges. Clinically, we evaluate behavioural responses after painful stimulation and also emotionally-contingent behaviours (e.g., smiling). Using stimuli with emotional valence, neuroimaging and electrophysiology technologies can detect subclinical remnants of preserved capacities for pain which might influence decisions about treatment limitation. To date, no data exist as to how healthcare providers think about end-of-life options (e.g., withdrawal of artificial nutrition and hydration) in the presence or absence of pain in non-communicative patients. Here, we aimed to better clarify this issue by re-analyzing previously published data on pain perception (Prog Brain Res 2009 177, 329–38) and end-of-life decisions (J Neurol 2010 258, 1058–65) in patients with disorders of consciousness. In a sample of 2259 European healthcare professionals we found that, for VS/UWS more respondents agreed with treatment withdrawal when they considered that VS/UWS patients did not feel pain (77%) as compared to those who thought VS/UWS did feel pain (59%). This interaction was influenced by religiosity and professional background. For MCS, end-of-life attitudes were not influenced by opinions on pain perception. Within a contemporary ethical context we discuss (1) the evolving scientific understandings of pain perception and their relationship to existing clinical and ethical guidelines; (2) the discrepancies of attitudes within (and between) healthcare providers and their consequences for treatment approaches, and (3) the implicit but complex relationship between pain perception and attitudes toward life-sustaining treatments. [less ▲]

Introduction: Walking speed is generally considered as the best outcome measure in trials for people with multiple sclerosis (pMS). We recently designed a device based on range laser scanner capable to ... [more ▼]

Introduction: Walking speed is generally considered as the best outcome measure in trials for people with multiple sclerosis (pMS). We recently designed a device based on range laser scanner capable to track feet paths of walking subjects. Our purpose was to explore gait descriptors of pMS and compare them with those of healthy volunteers (HV). Methods: Fourty-four pMS (considered as moderatly or highly disabled according to a cut-off EDSS value of 3.0) and 28 HV performed 4 walking tasks along 2 trajectories in 3 walking modes. Twenty-six gait descriptors crudely dichotomized in « efficiency» and « quality » of gait were compared in the 2 populations using unpaired t-tests. Results: (i) apart from an older age in pMS, the two populations were comparable, (ii) efficiency of gait descriptors including walking speed distinguished HV from pMS, and pMS with moderate from pMS with high disability, (iii) quality of gait descriptors were also significantly altered in pMS, including in walking tasks where their walking speed was comparable to that of HV. Conclusions: RLS technology can distinguish pMS from HV according to (i) more efficiency of gait descriptors than the sole walking speed and (ii) quality of gait descriptors, including in subjects with a « normal » walking speed. [less ▲]

Natalizumab-associated progressive multifocal leukoencephalopathy (N-PML) in multiple sclerosis (MS) is due to CNS infection by the opportunistic JC virus (JCV). As of december 2011, 193 confirmed cases ... [more ▼]

Natalizumab-associated progressive multifocal leukoencephalopathy (N-PML) in multiple sclerosis (MS) is due to CNS infection by the opportunistic JC virus (JCV). As of december 2011, 193 confirmed cases of N-PML have been observed, giving rise to an overall risk of approximately 0,202%. N-PML pathogenesis remains partially elusive although risk factors have now been clearly delineated. In patients with prior JCV infection detected by serum anti-JCV antibodies, duration of therapy and prior use of immunosuppressants (IS) increase the risk of N-PML. The clinical outcome of MS patients who developed N-PML was highly variable, ranging from asymptomatic case to varying degrees of neurological disability or even death. It was also observed in real life setting that the earlier N-PML was diagnosed and treated, the better was the clinical outcome. Clinical vigilance is now considered as the established cornerstone of PML risk-management algorithm. Here we present early MRI features of 4 out of 8 N-PML cases, which were observed in Wallonia-Brussels and Northern France in more than 4 years of post-marketing utilization of natalizumab for both regions. We are not aware of the specific context and outcome of the 4 other N-PML cases, which were diagnosed and treated in other centers. The reported cases emphasize that (i) N-PML can have a long presymptomatic course while still being clearly detectable with MR imaging, (ii) N-PML can have a benign outcome provided it is diagnosed and treated early, (iii) a clinically symptomatic N-PML may be a further advanced infection with a poorer prognosis, and (iv) periodic brain MR scans, particularly in high risk situations, are likely to provide earlier detection of N-PML and better outcomes. [less ▲]

Background: Motor fatigue and ambulation impairment are prominent clinical features of people with multiple sclerosis (pMS). We hypothesized that a multimodal and comparative assessment of walking speed ... [more ▼]

Background: Motor fatigue and ambulation impairment are prominent clinical features of people with multiple sclerosis (pMS). We hypothesized that a multimodal and comparative assessment of walking speed on short and long distance would allow a better delineation and quantification of gait fatigability in pMS. Objectives: To compare 4 walking paradigms: the timed 25-foot walk (T25FW), a corrected version of the T25FW with dynamic start (T25FW+), the timed 100-meter walk (T100MW) and the timed 500-meter walk (T500MW). Methods: Thirty controls and 81 pMS performed the 4 walking tests in a single study visit. Results: The 4 walking tests were performed with a slower WS in pMS compared to controls even in subgroups with minimal disability. The finishing speed of the last 100-meter of the T500MW was the slowest measurable WS whereas the T25FW+ provided the fastest measurable WS. The ratio between such slowest and fastest WS (Deceleration Index, DI) was significantly lower only in pMS with EDSS 4.0-6.0, a pyramidal or cerebellar functional system score reaching 3 or a maximum reported walking distance !4000m. Conclusion: The motor fatigue which triggers gait deceleration over a sustained effort in pMS can be measured by the WS ratio between performances on a very short distance and the finishing pace on a longer more demanding task. The absolute walking speed is abnormal early in MS whatever the distance of effort when patients are unaware of ambulation impairment. In contrast, the DI-measured ambulation fatigability appears to take place later in the disease course. [less ▲]

Pain, suffering and positive emotions in patients in vegetative state/unresponsive wakefulness syndrome (VS/UWS) and minimally conscious states (MCS) pose clinical and ethical challenges. Clinically, we evaluate behavioural responses after painful stimulation and also emotionally-contingent behaviours (e.g., smiling). Using stimuli with emotional valence, neuroimaging and electrophysiology technologies can detect subclinical remnants of preserved capacities for pain which might influence decisions about treatment limitation. To date, no data exist as to how healthcare providers think about end-of-life options (e.g., withdrawal of artificial nutrition and hydration) in the presence or absence of pain in non-communicative patients. Here, we aimed to better clarify this issue by re-analyzing previously published data on pain perception (Prog Brain Res 2009 177, 329–38) and end-of-life decisions (J Neurol 2010 258, 1058–65) in patients with disorders of consciousness. In a sample of 2259 European healthcare professionals we found that, for VS/UWS more respondents agreed with treatment withdrawal when they considered that VS/UWS patients did not feel pain (77%) as compared to those who thought VS/UWS did feel pain (59%). This interaction was influenced by religiosity and professional background. For MCS, end-of-life attitudes were not influenced by opinions on pain perception. Within a contemporary ethical context we discuss (1) the evolving scientific understandings of pain perception and their relationship to existing clinical and ethical guidelines; (2) the discrepancies of attitudes within (and between) healthcare providers and their consequences for treatment approaches, and (3) the implicit but complex relationship between pain perception and attitudes toward life-sustaining treatments. [less ▲]